Personalized genetic therapies for children with the rarest diseases

Rare Break brings leading scientists together and funds the research. What we learn from each therapy makes the next one faster. We started with our daughter, Jojo.

Jojo as a toddler, standing on a rug at home in blue overalls, smiling with her hands clasped
Our daughter, JojoHope for Jojo is our first project

Meet Jojo

Anyone who meets Jojo says she's magnetic.

When she locks eyes with a stranger, her face lights up, her eyes glimmer, like she's just won a big prize, and the prize is time with you.

She was also born with SCN8A, a severe genetic epilepsy. When she has a seizure, she stops breathing, and we pray she'll breathe again. Not every child with SCN8A does. There is no cure.

Hope for Jojo, our first project, is developing a therapy for her exact mutation and a path other families can follow.

Read Jojo's story

Jojo as a toddler in a pink party dress, sitting on a hospital bed with a monitor wire on her toe and a teddy bear beside her
Jojo had a seizure that wouldn't stop just as the vows began at a wedding. An ambulance took her straight to the hospital, and we missed the whole wedding.

The problem

Too rare for drug companies

Most of the more than 7,000 known rare diseases have no approved treatment. For the rarest ones, the usual path to a therapy doesn't exist.

Too few patients

When a mutation is shared by only a handful of children, drug companies can't justify the cost of developing a therapy.

No playbook

Families start from zero, raising money and recruiting scientists on their own.

Lessons get lost

What one family learns rarely reaches the next, so each one has to start over.

Our approach

How it works

Our goal is to speed up n-of-1 therapies: treatments designed for one child's specific mutation. We focus on genetic therapies, which go after the cause of a disease, not just its symptoms.

CRISPR gene editing fixes a genetic typo directly in the DNA. Antisense oligonucleotides (ASOs) turn a gene's activity up or down without changing the DNA.

  1. 01

    Design

    A genetic therapy for the child's mutation.

  2. 02

    Test in human cells

    Grown from the child's own stem cells.

  3. 03

    Test in mice

    Engineered to carry the same mutation.

  4. 04

    Manufacture and test safety

    To FDA standards.

  5. 05

    Treat

    Once the FDA clears it.

Each therapy makes the next one faster

The main thing that changes from one child to the next is the therapy's design, such as the gene editor or ASO. The rest of the process stays largely the same, so each therapy that works becomes a playbook for the next.

The FDA is increasingly supportive. In 2026, it released draft guidance on individualized therapies and on reusing data across similar gene-editing programs.

We're starting with the nervous system, the next frontier for gene editing.

AI at every step

  • GeminiPointed to Jojo's diagnosis before any doctor suspected it, and its deep research built the scientific case for this work.
  • AlphaFoldLet us see Jojo's mutation.
  • Co-ScientistHelps generate hypotheses.
  • IGIUses AI to make Jojo's gene editor more effective.
  • Jackson LabUses AI to test hypotheses and design studies.
  • FamiliesWe're exploring AI models built on what families share day to day.

Our long-term goal is a predictive AI model, built on shared data from each therapy, so new therapies can be designed faster.

Hope for Jojo

Progress so far

Leading scientists are working on an 18 to 24 month plan to develop Jojo's therapy.

$1.44M

raised toward our $5M goal for Jojo's therapy

Includes cash, grants, and committed in-kind support. As of August 23, 2026.
12

neurology cases at the Innovative Genomics Institute. Jojo's paved the way.

  • Gene editor builtIGI designed an editor to correct Jojo's mutation and is using AI to make it more effective.
  • Testing in human neuronsThe editor is being tested on neurons grown from stem cells.
  • Mouse model createdJackson Laboratory made a mouse with Jojo's exact mutation and is studying it.
  • Manufacturing prep fundedThe manufacturing contract is underway.
  • Next up: the first production batchWe're raising $500,000 to set it up.
Working with Innovative Genomics Institute The Jackson Laboratory University of Virginia Stanford Harvard

See the full roadmap

Get involved

Help us move faster

Give

Every gift moves the research forward.

Donate

Start a fundraiser

Rally your community for SCN8A research.

Start a fundraiser

Volunteer

Put your skills to work for kids like Jojo.

Email us

Stay updated

Get news as the research moves.

Sign up